Understanding SANDO: A Rare Mitochondrial Disease
SANDO, or sensory ataxia, dysarthria, and ophthalmoplegia, is a rare mitochondrial disease that falls under the ataxia neuropathy spectrum. It is typically associated with mutations in the POLG1 gene and primarily affects the brain, muscles, nerves, and eyes. This condition usually manifests in adulthood, with an average onset age of 32, although younger patients can be identified with increased awareness of the condition.
Causes and Genetics
SANDO is caused by genetic mutations in the POLG1 gene, which is responsible for producing a protein that replicates mitochondrial DNA. Mutations in this gene can damage the maintenance of mitochondrial DNA, leading to a decrease in the quantity and fidelity of mtDNA within the cell. The most common variants associated with SANDO are p.A467T and p.W748S, although p.A467T is not exclusive to SANDO.
Symptoms and Clinical Presentation
The defining symptoms of SANDO include coordination problems (ataxia), speech difficulties (dysarthria), and eye muscle paralysis (ophthalmoplegia). These symptoms can vary greatly in severity and progression among patients. While the disease tends to worsen over time, its progression is slower and more moderate compared to other related mitochondrial diseases.
Common Symptoms | Description |
---|---|
Ataxia | Impaired coordination and balance, leading to unsteady gait and difficulty with fine motor tasks |
Dysarthria | Difficulty with speech, including slurred or unclear speech, and problems with swallowing |
Ophthalmoplegia | Paralysis of the eye muscles, resulting in droopy eyelids and difficulty moving the eyes |
Other Symptoms | Unintentional muscle twitches (myoclonus), liver disease, depression, migraines, and potential blindness |
Treatment and Management
There is currently no cure for SANDO, and treatment focuses on managing symptoms and improving the quality of life for affected individuals. This may include physical therapy, speech therapy, and medications to manage specific symptoms such as seizures or depression.
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